Abstract
WAGR syndrome is a rare genetic disorder characterized by Wilms tumor, Aniridia, Genitourinary anomalies, and Range of developmental delays. In addition to the classic features, patients affected by WAGR syndrome can develop obesity and kidney failure, and a wide variety of non-classical manifestations have also been described. This suggests that a broader phenotypic spectrum beyond the classic syndrome exists and here we demonstrate that spectrum using data from the WAGR Syndrome Patient Registry. In the present study, we collected information from 91 individuals enrolled in the registry to explore self-reported health issues in this patient population. A wide variety of common clinical issues not classically associated with the disorder were found, prompting the redefinition from WAGR syndrome to WAGR spectrum disorder to incorporate the phenotypic variations that occur. A comprehensive care management approach is needed to address the wide range of clinical issues and we propose a care model for patients affected by WAGR spectrum disorder. Further research is needed to solidify the breath of the phenotype and confirm the observations in this study to advance individualized patient care in this population.
Highlights
WAGR syndrome is a rare genetic disorder defined by the acronym of the features classically associated with the syndrome: Wilms tumor (WT), Aniridia, Genitourinary (GU) anomalies, and Range of developmental delays
A total of 91 participants who selected a diagnosis of WAGR syndrome were identified through the Coordination of Rare Diseases at Sanford (CoRDS) registry, with enrollment completed between August 2014 and May 2020
Monitoring for Signs of Chronic Kidney Disease A variety of structural or other imaging abnormalities detectable by renal ultrasound (RUS) that suggest potential chronic kidney disease (CKD) risk or etiology have been established (38, 43), and we have provided a summary in Supplementary Table S4 with correlation to the rates observed in the WAGR Discovery Cohort to justify an association between CKD risk and WAGR spectrum
Summary
WAGR syndrome is a rare genetic disorder defined by the acronym of the features classically associated with the syndrome: Wilms tumor (WT), Aniridia, Genitourinary (GU) anomalies, and Range of developmental delays. The disorder is caused by a deletion in chromosome 11p13 (1). Deleted genes in the region including WT1 and PAX6 are thought to cause the phenotypic features and clinical issues in patients; much is still unknown about the specific molecular role of these genes in patients with WAGR syndrome. Deletions in BDNF have been found in ∼50% of patients with WAGR and the BDNF gene has been associated with obesity (2). Other candidate genes in the 11p13 region have recently been implicated in regard to WT risk and behavioral/cognitive functioning.
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